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The tale of a nail sign in chromosome 4q34 deletion syndrome

Vogt, Juliea; Ryan, Ethelb; Tischkowitz, Marc D.c; Reardon, Williamc; Brueton, Louise A.a b

doi: 10.1097/01.mcd.0000203632.86190.64
ORIGINAL ARTICLES
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Relatively few reports of deletions involving the distal long arm of chromosome 4 (4q) exist. Five further cases are described and the findings are compared with those in previous literature reports. Distal 4q deletions may be recognized by the distinctive appearance of the fifth finger, which is stiff with a hypoplastic distal phalanx and a hooked or volar nail. All cases with this characteristic fifth finger anomaly appear to have deletions involving 4q34.

aClinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, West Midlands, UK

bNational Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland

cNE Thames Regional Genetics Service-Clinical Genetics Unit, Great Ormond Street Hospital for Children NHS Trust, London, UK

Correspondence and requests for reprints to Dr Julie Vogt, Clinical Genetics Unit, Birmingham Women's Hospital, Metchley Park Road, Edgbaston, West Midlands B15 2BR, UK

Tel: +44 121 627 2630; fax: +44 121 627 2618; e-mail: julie.vogt@bwhct.nhs.uk

Sponsorship: Dr Reardon's work is supported by the Children's Medical and Research Foundation at Our Lady's Hospital for Sick Children.

Received 21 November 2005 Accepted 8 December 2005

© 2006 Lippincott Williams & Wilkins, Inc.